dc.contributor.author | Patsopoulos, Nikolaos A. | en_US |
dc.contributor.author | Barcellos, Lisa F. | en_US |
dc.contributor.author | Hintzen, Rogier Q. | en_US |
dc.contributor.author | Schaefer, Catherine | en_US |
dc.contributor.author | van Duijn, Cornelia M. | en_US |
dc.contributor.author | Noble, Janelle A. | en_US |
dc.contributor.author | Raj, Towfique | en_US |
dc.contributor.author | Gourraud, Pierre-Antoine | en_US |
dc.contributor.author | Stranger, Barbara E. | en_US |
dc.contributor.author | Oksenberg, Jorge | en_US |
dc.contributor.author | Olsson, Tomas | en_US |
dc.contributor.author | Taylor, Bruce V. | en_US |
dc.contributor.author | Sawcer, Stephen | en_US |
dc.contributor.author | Hafler, David A. | en_US |
dc.contributor.author | Carrington, Mary | en_US |
dc.contributor.author | De Jager, Philip L. | en_US |
dc.contributor.author | de Bakker, Paul I. W. | en_US |
dc.date.accessioned | 2014-03-11T02:49:26Z | |
dc.date.issued | 2013 | en_US |
dc.identifier.citation | Patsopoulos, N. A., L. F. Barcellos, R. Q. Hintzen, C. Schaefer, C. M. van Duijn, J. A. Noble, T. Raj, et al. 2013. “Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects.” PLoS Genetics 9 (11): e1003926. doi:10.1371/journal.pgen.1003926. http://dx.doi.org/10.1371/journal.pgen.1003926. | en |
dc.identifier.issn | 1553-7390 | en |
dc.identifier.uri | http://nrs.harvard.edu/urn-3:HUL.InstRepos:11879129 | |
dc.description.abstract | The major histocompatibility complex (MHC) region is strongly associated with multiple sclerosis (MS) susceptibility. HLA-DRB1*15:01 has the strongest effect, and several other alleles have been reported at different levels of validation. Using SNP data from genome-wide studies, we imputed and tested classical alleles and amino acid polymorphisms in 8 classical human leukocyte antigen (HLA) genes in 5,091 cases and 9,595 controls. We identified 11 statistically independent effects overall: 6 HLA-DRB1 and one DPB1 alleles in class II, one HLA-A and two B alleles in class I, and one signal in a region spanning from MICB to LST1. This genomic segment does not contain any HLA class I or II genes and provides robust evidence for the involvement of a non-HLA risk allele within the MHC. Interestingly, this region contains the TNF gene, the cognate ligand of the well-validated TNFRSF1A MS susceptibility gene. The classical HLA effects can be explained to some extent by polymorphic amino acid positions in the peptide-binding grooves. This study dissects the independent effects in the MHC, a critical region for MS susceptibility that harbors multiple risk alleles. | en |
dc.language.iso | en_US | en |
dc.publisher | Public Library of Science | en |
dc.relation.isversionof | doi:10.1371/journal.pgen.1003926 | en |
dc.relation.hasversion | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836799/pdf/ | en |
dash.license | LAA | en_US |
dc.title | Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects | en |
dc.type | Journal Article | en_US |
dc.description.version | Version of Record | en |
dc.relation.journal | PLoS Genetics | en |
dash.depositing.author | Patsopoulos, Nikolaos A. | en_US |
dc.date.available | 2014-03-11T02:49:26Z | |
dc.identifier.doi | 10.1371/journal.pgen.1003926 | * |
dash.authorsordered | false | |
dash.contributor.affiliated | Patsopoulos, Nikolaos | |
dash.contributor.affiliated | Raj, Towfique | |
dash.contributor.affiliated | Hafler, David | |
dash.contributor.affiliated | De Jager, Philip | |